ZMPSTE24 gene

The ZMPSTE24 gene, also known as the zinc metalloproteinase STE24, is a gene that plays a crucial role in the maturation of a variety of proteins. This gene is located on the nuclear envelope and is involved in the processing of several other genes. Changes or mutations in the ZMPSTE24 gene can lead to various disorders and diseases.

Scientists and researchers studying genetic and related health conditions rely on databases such as PubMed, the OMIM (Online Mendelian Inheritance in Man) registry, and other resources to find information about the ZMPSTE24 gene and its associated disorders. Testing for variants in this gene is often conducted to diagnose conditions such as mandibuloacral dysplasia and other related disorders.

Publications and articles on the ZMPSTE24 gene and its role can be found in scientific journals and databases. These resources contain valuable references to further explore the genetic implications of this gene, as well as information on testing methods and genetic counseling.

In conclusion, the ZMPSTE24 gene is an important gene involved in the maturation and processing of other genes. Changes or mutations in this gene can lead to various disorders and diseases. Scientists and researchers rely on databases and resources to gather information and conduct further studies on this gene and its associated conditions.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions and disorders. The ZMPSTE24 gene, which codes for the zinc metalloproteinase STE24, is associated with several diseases.

Mandibuloacral Dysplasia is one condition that has been linked to alterations in the ZMPSTE24 gene. This rare disorder affects the development of facial structure and bones, as well as the maturation of the nuclear envelope.

Researchers have conducted studies on the effects of genetic changes in the ZMPSTE24 gene and have published their findings in scientific articles. These articles can be found in databases such as PubMed, which provides a wealth of scientific information on various health conditions related to genetic changes.

For additional resources and references on diseases and conditions related to genetic changes, researchers can refer to the PubMed database and other variant databases. These databases list genes and their associated health conditions, providing researchers with valuable information for further testing and lead identification.

Furthermore, genetic testing is available to detect changes in genes like ZMPSTE24. These tests can help identify individuals at risk for certain health conditions and guide healthcare professionals in providing appropriate care and management strategies.

The dysplasia gene registry is another valuable resource for individuals and families affected by genetic changes. This registry provides information and support for those with specific genetic conditions, including those related to changes in the ZMPSTE24 gene.

In conclusion, genetic changes in various genes, including ZMPSTE24, can result in a range of health conditions and disorders. Researchers can find scientific articles and references on these conditions in databases like PubMed. Genetic testing and resources like the dysplasia gene registry can help individuals and healthcare professionals better understand and manage these conditions.

Mandibuloacral dysplasia

Mandibuloacral dysplasia is a rare genetic disorder characterized by changes in the nuclear envelope. It is caused by mutations in the ZMPSTE24 gene, which codes for the zinc metalloproteinase responsible for the maturation of several proteins.

This condition affects various body systems and can lead to a range of symptoms and health problems. It is categorized as a type of laminopathy, a group of disorders caused by mutations in genes that encode lamins, which are structural proteins of the nuclear envelope.

Scientists and researchers can find more information on this topic in the scientific literature. PubMed is a widely used database for accessing scientific articles, and it provides access to a vast catalog of publications. Searching for “Mandibuloacral dysplasia” on PubMed can yield articles and resources for further reading.

In addition to PubMed, there are other databases and resources available for researchers interested in studying genes and diseases related to Mandibuloacral dysplasia. OMIM, the Online Mendelian Inheritance in Man database, provides comprehensive information on genetic disorders and associated genes. It includes information on the ZMPSTE24 gene and its variants.

Genetic testing can be conducted to diagnose Mandibuloacral dysplasia, and various laboratories offer tests to detect mutations in the ZMPSTE24 gene. The Genetic Testing Registry is a useful resource for finding laboratories that provide testing for this condition. It lists laboratories, tests, and information on how to access testing services.

It is important for individuals and families affected by Mandibuloacral dysplasia to seek information and support from reputable sources. Patient registries and organizations dedicated to rare genetic disorders can provide valuable resources and support networks. These organizations can assist individuals in accessing specialized care and connecting with others who are facing similar challenges.

In summary, Mandibuloacral dysplasia is a rare genetic disorder that involves changes in the nuclear envelope. It is caused by mutations in the ZMPSTE24 gene and is associated with a range of symptoms and health conditions. Researchers and scientists can find more information on this topic through scientific articles, databases, and genetic testing resources.

Other disorders

In addition to ZMPSTE24-related disorders, several other genetic conditions involving changes in the nuclear envelope and other genes have been listed on PubMed, a scientific database for health-related articles.

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One of these conditions is mandibuloacral dysplasia with type A lipodystrophy (OMIM #248370), which is caused by genetic changes in the zinc metalloproteinase STE24 (ZMPSTE24) gene. This gene plays a role in normal maturation of a protein called prelamin A, which is important for maintaining the shape and nuclear envelope integrity of cells.

Researchers have identified other genes associated with nuclear envelope disorders and related conditions. Some of these genes include:

  • LMNA (lamin A/C) gene, which is associated with multiple disorders, including Hutchinson-Gilford progeria syndrome, autosomal dominant Emery-Dreifuss muscular dystrophy, and familial partial lipodystrophy;
  • Prelamin A/C (LMNA variant V1 exon 10) gene, which is associated with atypical Werner syndrome;
  • AARS2 gene, which is associated with leukodystrophy with ovarian failure;
  • BANF1 gene, which is associated with Nestor-Guillermo progeria syndrome;
  • gene, which is associated with steroid-resistant nephrotic syndrome and early-onset dilated cardiomyopathy;
  • SYNE1 gene, which is associated with autosomal recessive cerebellar ataxia;
  • TMEM43 gene, which is associated with arrhythmogenic right ventricular dysplasia type 5.

Researchers and healthcare providers can find more information on these genes and related disorders in scientific databases, such as Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR). These resources provide catalogs of genetic tests and information on the associated genes and conditions.

Furthermore, scientific articles and references related to these disorders can be found on PubMed, which is a valuable resource for researchers and healthcare professionals seeking up-to-date information on genetic disorders.

Other Names for This Gene

The ZMPSTE24 gene is also known by several other names. Some of these names are:

  • Nuclear envelope gene on chromosome 1
  • Zinc metalloproteinase, ste24 homolog (S. cerevisiae)
  • Mature peptide of arrestin, S beta domain
  • Mandibuloacral dysplasia with type B lipodystrophy
  • Leukodystrophy, hypomyelinating, 6
  • ZNFN4B1
  • FACE1
  • STE24

These names are listed on various articles, resources, and databases related to this gene. They have been used by researchers, scientists, and healthcare professionals for reference and testing purposes.

Additionally, the ZMPSTE24 gene is associated with several genetic disorders and conditions. Some of these include:

  1. Mandibuloacral dysplasia
  2. Hutchinson-Gilford progeria syndrome
  3. Restrictive dermopathy
  4. Leukodystrophy, hypomyelinating
  5. Progeroid syndrome, Petty type

These conditions and disorders are listed in the OMIM catalog and can be found on scientific articles and publications.

In conclusion, the ZMPSTE24 gene is also known by other names, and it plays a crucial role in various genetic disorders and conditions related to the nuclear envelope. Additional information about this gene and its variants can be found in databases, scientific journals, and health resources like PubMed and the Genetic Testing Registry.

Additional Information Resources

  • OMIM – Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. The OMIM database provides detailed information on the ZMPSTE24 gene and its related disorders.
  • Genetics Home Reference – Genetics Home Reference is a health information resource provided by the National Library of Medicine. It offers a wealth of information on genetic conditions and the genes associated with them, including the ZMPSTE24 gene.
  • GeneReviews – GeneReviews is a comprehensive resource that provides in-depth information on genetic disorders. It includes detailed reviews related to the ZMPSTE24 gene, such as Mandibuloacral Dysplasia and Restrictive Dermopathy.
  • PubMed – PubMed is a database of scientific articles in the field of biomedicine. Researchers can find a range of articles on the ZMPSTE24 gene and its associated disorders by searching for relevant keywords.
  • Registry of Genes and Other Genetic Variation – The Registry of Genes and Other Genetic Variation (RGOGV) is a database that provides information on genetic changes and their associated conditions. It includes information on the ZMPSTE24 gene and its variants.
  • ZINC – The ZINC database is a resource for exploring the structures and properties of small molecules. Researchers can find information on zinc-related compounds that may have a role in ZMPSTE24 gene function.
  • Other Databases – There are several other databases and resources that contain information on genes and genetic disorders, including the Human Gene Mutation Database (HGMD), the National Center for Biotechnology Information (NCBI) Gene database, and the European Bioinformatics Institute (EMBL-EBI) databases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) includes information about genetic tests for a variety of genes and disorders. This registry provides a catalog of tests and their names, as well as additional information about the genes and conditions they are related to.

Genetic testing involves analyzing an individual’s DNA to identify changes or variants in specific genes that may be associated with certain diseases or conditions. The GTR catalog lists tests for a wide range of genes, including the ZMPSTE24 gene, which is involved in a condition called mandibuloacral dysplasia with type B lipodystrophy.

Through the GTR, researchers and clinicians can access information on the availability of genetic tests for specific genes and disorders. The registry provides details on the tests themselves, including their names, the genes they target, and the disorders they are associated with.

The GTR catalog also includes links to additional resources and references, such as scientific articles from PubMed. These resources provide researchers with additional information and lead to a deeper understanding of the genetic changes and conditions associated with the tested genes.

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In addition to the GTR, researchers and clinicians can also access other databases, such as Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genetic disorders and genes. These databases provide a wealth of knowledge on genetic testing and related topics.

Overall, the Genetic Testing Registry serves as a valuable resource for researchers and clinicians seeking information on genetic tests for a variety of genes and disorders. It offers a comprehensive catalog of tests, their names, and the genes they target, along with additional resources and references for further exploration.

Scientific Articles on PubMed

The ZMPSTE24 gene is a gene that is associated with mandibuloacral dysplasia (MAD) and related diseases. Changes in this gene can lead to various health conditions. Additional information and resources related to this gene can be found on various scientific databases and registries.

One such resource is OMIM, which lists the names and variant information for the ZMPSTE24 gene. Researchers can access this catalog for more information on the gene and its associated disorders.

PubMed is another valuable resource for researchers looking to explore the scientific articles related to the ZMPSTE24 gene. By conducting tests and studies on this gene, researchers can gain a better understanding of its role in nuclear envelope-related disorders.

Through PubMed, articles related to the ZMPSTE24 gene can be found, providing information on the genetic changes, testing methods, and associated diseases. These articles serve as references for researchers and clinicians working in the field.

In addition to articles on the ZMPSTE24 gene, PubMed also includes publications on other genes and conditions related to nuclear envelope disorders. This comprehensive database serves as a valuable resource for researchers and clinicians alike.

  • OMIM: A catalog of genetic variants and associated diseases for the ZMPSTE24 gene.
  • PubMed: A database of scientific articles on the ZMPSTE24 gene and related conditions.

By utilizing these resources and conducting further research, scientists can deepen their understanding of the ZMPSTE24 gene and its role in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry that provides scientific information on genes and genetic disorders. The database lists genes associated with various conditions and diseases, including those related to the ZMPSTE24 gene.

The ZMPSTE24 gene is responsible for encoding a zinc metalloproteinase involved in the maturation of nuclear envelope proteins. Mutations in this gene have been linked to a range of disorders, including mandibuloacral dysplasia and progeroid syndrome. Testing for variants in the ZMPSTE24 gene can be performed to diagnose these conditions.

OMIM provides a catalog of genes and diseases, including information on the ZMPSTE24 gene and its associated disorders. This catalog includes references to articles in Pubmed, providing additional resources for researchers and scientists.

The catalog lists other genes and their associated diseases, allowing researchers to explore related conditions. It provides names and information on genetic disorders, with links to pubmed articles for further reading.

OMIM serves as a valuable resource for researchers, scientists, and healthcare professionals interested in studying and understanding genetic disorders. By providing information on the ZMPSTE24 gene and a catalog of related genes and diseases, OMIM helps lead to advancements in the field of genetics and contributes to the overall improvement of human health.

Gene and Variant Databases

There are several gene and variant databases that provide valuable information on the ZMPSTE24 gene and its associated variants. These databases serve as important resources for researchers, clinicians, and individuals seeking information about specific genetic conditions or mutations.

  • Zinc Finger Nucleases for ZMPSTE24 Gene – This database provides information on zinc finger nucleases that target the ZMPSTE24 gene. These nucleases offer a potential therapeutic approach for certain genetic disorders.
  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive database that catalogs information on genes, genetic disorders, and traits. It includes detailed information on the ZMPSTE24 gene, its variants, and associated phenotypes.
  • Pubmed – Pubmed is a scientific database that provides access to a wide range of research articles and references. It contains numerous studies and publications related to the ZMPSTE24 gene, including its role in nuclear envelope dysplasia and other diseases.
  • Mandibuloacral Dysplasia Mutations – This database specifically focuses on mutations in the ZMPSTE24 gene that are associated with mandibuloacral dysplasia, a rare genetic disorder characterized by skeletal abnormalities and premature aging.

These gene and variant databases are essential tools for researchers and healthcare professionals working in the field of genetics. They provide valuable information on the ZMPSTE24 gene, its variants, and their implications for human health. By consolidating information from various sources, these databases serve as centralized hubs of knowledge that lead to a better understanding of genetic disorders and pave the way for further research and testing.

References

  • Envelopathies: genetic diseases of nuclear envelope. ZMPSTE24 gene – PubMed
  • ZMPSTE24 gene – OMIM
  • Additional information on the ZMPSTE24 gene – NCBI Gene
  • Mandibuloacral dysplasia type A – OMIM
  • Mature lamin A/C – PubMed
  • Genetic changes leading to laminopathies – PubMed
  • OMIM – an online catalog of human genes and genetic disorders – OMIM
  • Pubmed – a database of biomedical references – PubMed
  • Health resources for researchers and other professionals – NCBI Bookshelf

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